Also known as histidinuria, Histidine ammonia-lyase deficiency, Hal Deficiency, Hyperhistidinemia, His Deficiency, Histidase deficiency
Histidinemia is a rare autosomal recessive metabolic disorder caused by a deficiency of the enzyme histidase. Histidase is needed for the metabolism of the amino acid histidine. Although originally thought to be linked to multiple developmental disorders histidinemia is now accepted as a relatively benign disorder, leading to a reduction in the prevalence of neonatal screening procedures.
via PubMed
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Histidinemia is a rare autosomal recessive metabolic disorder caused by a deficiency of the enzyme histidase. Histidase is needed for the metabolism of the amino acid histidine. Although originally thought to be linked to multiple developmental disorders histidinemia is now accepted as a relatively benign disorder, leading to a reduction in the prevalence of neonatal screening procedures.
==Presentation==
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Discovered by embedding cosine similarity (sentence-transformers MiniLM, 384-dim).